Search Ontology:
Human Disease

spinocerebellar ataxia type 1

Term ID
DOID:0050954
Synonyms
Definition
An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1
References
Ontology
Human Disease   ( DOID:0050954 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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